GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural variant phasing.
Genome Biol
; 22(1): 202, 2021 07 12.
Article
en En
| MEDLINE
| ID: mdl-34253237
ABSTRACT
GRIDSS2 is the first structural variant caller to explicitly report single breakends-breakpoints in which only one side can be unambiguously determined. By treating single breakends as a fundamental genomic rearrangement signal on par with breakpoints, GRIDSS2 can explain 47% of somatic centromere copy number changes using single breakends to non-centromere sequence. On a cohort of 3782 deeply sequenced metastatic cancers, GRIDSS2 achieves an unprecedented 3.1% false negative rate and 3.3% false discovery rate and identifies a novel 32-100 bp duplication signature. GRIDSS2 simplifies complex rearrangement interpretation through phasing of structural variants with 16% of somatic calls phasable using paired-end sequencing.
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Programas Informáticos
/
Puntos de Rotura del Cromosoma
/
Variaciones en el Número de Copia de ADN
/
Neoplasias
Límite:
Humans
Idioma:
En
Revista:
Genome Biol
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Australia